Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: HSPA9

Green List (high evidence)

HSPA9 (heat shock protein family A (Hsp70) member 9)
EnsemblGeneIds (GRCh38): ENSG00000113013
EnsemblGeneIds (GRCh37): ENSG00000113013
OMIM: 600548, Gene2Phenotype
HSPA9 is in 6 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Created: 10 Nov 2023, 3:36 p.m. | Last Modified: 12 Nov 2023, 12:54 p.m.
Panel Version: 4.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Even-plus syndrome, OMIM:616854

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

>3 independent cases now reported
PMID: 26598328 describes the identification of biallelic variants in HSPA9 in three patients (two of which are siblings), with EVEN-PLUS syndrome
PMID: 32869452 reported another patient
PMID: 35779070 reported two siblings
PMID: 36052765 reported first Chinese patient
Created: 2 Nov 2023, 9:08 a.m. | Last Modified: 2 Nov 2023, 9:08 a.m.
Panel Version: 4.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Even-plus syndrome 616854

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 4 May 2024, 3:17 p.m. | Last Modified: 4 May 2024, 3:17 p.m.
Panel Version: 5.3
Comment on phenotypes: EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia;Epiphyseal, Vertebral, Ear, Nose, plus associated findings.
Monoallelic variants reported in Anemia, sideroblastic, 4 182170.
Created: 30 Sep 2019, 1:35 p.m. | Last Modified: 30 Sep 2019, 1:35 p.m.
Panel Version: 1.330
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated cases.
Created: 30 Sep 2019, 1:33 p.m. | Last Modified: 30 Sep 2019, 1:33 p.m.
Panel Version: 1.329

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed in the Analysis & Interpretation meeting and decided to make this red for now.
Created: 25 Apr 2016, 12:18 p.m.
Comment on list classification: PMID: 26598328 describes the identification of biallelic variants in HSPA9 in three patients (two of which are siblings), with EVEN-PLUS syndrome (a proposed syndrome name), and discussed the evidence for likely effect on HSPA9 function due to its role as a mitochondrial chaperone.
Created: 15 Feb 2016, 11:46 a.m.
Comment on mode of inheritance: One patient was compound heterozygous, the two siblings were homozygous for a seperate mutation. Unaffected parents were heterozygous.
Created: 15 Feb 2016, 11:44 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Even-plus syndrome, OMIM:616854
OMIM
600548
Clinvar variants
Variants in HSPA9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: HSPA9. Tag Q4_23_NHS_review was removed from gene: HSPA9.

4 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to HSPA9. Source NHS GMS was added to HSPA9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: hspa9 has been classified as Amber List (Moderate Evidence).

10 Nov 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HSPA9 were changed from Even-plus syndrome, OMIM:616854 to Even-plus syndrome, OMIM:616854

10 Nov 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: HSPA9 were changed from Even-plus syndrome 616854 to Even-plus syndrome, OMIM:616854

10 Nov 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765

10 Nov 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: HSPA9 were set to 26598328; 32869452; 35779070; 36052765

10 Nov 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: HSPA9 were set to PMID: 26598328

10 Nov 2023, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: HSPA9. Tag Q4_23_NHS_review tag was added to gene: HSPA9.

30 Sep 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HSPA9 were changed from EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings to Even-plus syndrome 616854

30 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hspa9 has been classified as Amber List (Moderate Evidence).

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HSPA9 was added gene: HSPA9 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to PMID: 26598328 Phenotypes for gene: HSPA9 were set to EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia; Epiphyseal, Vertebral, Ear, Nose, plus associated findings